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Abstract
Background: The highly polymorphic CYP2D6 gene has extensively been studied in many populations, but there is a void of knowledge regarding CYP2D6 pharmacogenetics and activity in populations with unique ancestries and admixture, such as those residing in Trinidad and Tobago. Materials & methods: 167 healthy Indo- and 103 Afro-Trinidadians were phenotyped with dextromethorphan and extensively genotyped. Gene resequencing was performed to resolve cases with genotype/phenotype discordance. Results: CYP2D6 activity did not differ between the Indo-Trinidadians and Afro-Trinidadians. Poor metabolizers were, however, more frequent in the Indo-Trinidadians (4.19 vs 1.94%), and unique allele frequency patterns were observed. Two novel nonfunctional allelic variants were found among the Indo-Trinidadians in two discordant cases. CYP2D6*100 is characterized by a single nucleotide deletion and CYP2D6*101 by a 19-bp deletion; both cause frameshifts. Conclusion: Our study underscores the importance of thoroughly characterizing the genetic make up of unique populations when considering pharmacogenetic testing for individualized therapy.
Original submitted 15 October 2012; Revision submitted 7 December 2012
Acknowledgements
The authors would like to acknowledge with gratitude M Ackenheil, now deceased, for his kindness of providing free access to his laboratory and free conduction of phenotyping with DM in his laboratory. The authors also express their appreciation to M Schwartz and H Klaus for performing DM phenotyping, G Legall, for his statistical advice and assistance and The University of the West Indies for providing in part, the funds for this research. The authors would also like to acknowledge the technical assistance of G Twist and L Ndjountché for genotyping and gene copy number analysis and gene resequencing.
Financial & competing interests disclosure
The University of the West Indies provided, in part, the funds for this research. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.
Ethical conduct of research
The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.